Human Phenotype Ontology 
Grandparent Node:
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Abnormal hair quantity (HP:0011362)help
Parent Node:
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Abnormality of the axillary hair (HP:0100134)help
Parent Node:
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Absent hair (HP:0002298)help
..Starting node
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Absent axillary hair (HP:0002221)help
Term ID: 2221
Name: Absent axillary hair
Synonym:
Definition: Absence of axillary hair.
Comments:
Reference: HP:0002221
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent eyebrow (HP:0002223) help
..expandAbsent facial hair (HP:0002550) help
..expandAbsent pubic hair (HP:0002555) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002221HP:0002221Absent axillary hair0APOE CL E G H348613OMIM:269600Sea-Blue histiocyte disease.39
HP:0002221HP:0002221Absent axillary hair0AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndromeHP:0040282 - Frequent125
HP:0002221HP:0002221Absent axillary hair0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040283 - Occasional53
HP:0002221HP:0002221Absent axillary hair0EPS8L3 CL E G H7957421297OMIM:612841Hypotrichosis 5.
HP:0002221HP:0002221Absent axillary hair0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0002221HP:0002221Absent axillary hair0GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0002221HP:0002221Absent axillary hair0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0002221HP:0002221Absent axillary hair0HR CL E G H558065172OMIM:203655Alopecia universalis congenita106
HP:0002221HP:0002221Absent axillary hair0ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0002221HP:0002221Absent axillary hair0LSS CL E G H40476708OMIM:618275Hypotrichosis 142
HP:0002221HP:0002221Absent axillary hair0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.
HP:0002221HP:0002221Absent axillary hair0SNRPE CL E G H663511161OMIM:615059Hypotrichosis 11.2
HP:0002221HP:0002221Absent axillary hair0TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndromeHP:0040281 - Very frequent100
HP:0002221HP:0002221Absent axillary hair0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome.17


Genes (13) :APOE AR CYP17A1 EPS8L3 GJB2 GJB6 HR ITGB4 LSS PPP2R3C SNRPE TBX3 ZBTB20

Diseases (14) :OMIM:269600 ORPHA:99429 ORPHA:90793 OMIM:612841 OMIM:148210 OMIM:129500 ORPHA:189 OMIM:203655 OMIM:619816 OMIM:618275 OMIM:618419 OMIM:615059 ORPHA:3138 OMIM:259050
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.